Search This Blog

Our son, Ethan, was diagnosed with peroxisomal biogenesis disorder - zellweger spectrum disorder (PBD-ZSD), a very rare genetic disease, when he was just four weeks old. There is no cure for PBD-ZSD and treatment is symptomatic. This is our PBD-ZSD journey.

Subscribe to this blog

Submit your email below to follow this blog by email.

#PAUSEforPBD - October 5, 2015

The Global Foundation for Peroxisomal Disorders (GFPD) will be celebrating five years old on October 5th. In honor of our founding day we have designated October 5th as #PAUSEforPBD, a day in which we ask our friends and family to join us in raising awareness of PBD-ZSD and more importantly showing support for the children and families affected by this disease - past, present, and future.

The GFPD is offering a limited edition #PAUSEforPBD shirts that are available in youth t-shirt, adult unisex t-shirt, ladies (fitted) t-shirt, adult unisex long sleeve, and adult hooded sweatshirt styles. For more information on this fundraiser and/or to order your #PAUSEforPBD shirt, please visit: https://www.bonfirefunds.com/pauseforpbd.

Comments

Post a Comment

Popular posts from this blog

This Saturday we are hosting the first annual Pancakes for PBD benefit. All the proceeds will go to the Global Foundation for Peroxisomal Disorders to help offset the costs for our family and others like us to attend this summer's 2012 Family Support Conference in Orlando, FL.
We hope that this will become an annual tradition and allow us to help raise awareness and money for peroxisomal biogenesis disorders.

October 5th is a special day for our family as we celebrate #PauseForPBD, the annual awareness day for The Global Foundation for Peroxisomal Disorders (GFPD). [Jeff's birthday also happens to be October 5th but he doesn't seem to mind sharing it with #PauseForPBD day.] Our son, Ethan, is 7 years old and is one of less than 200 children, known to the GFPD, living worldwide with Peroxisome Biogenesis Disorder (PBD). Ethan has a contagious smile and laugh, despite the fact that PBD has caused him to have severe cognitive and physical delays. Peroxisome Biogenesis Disorder (also known as Zellweger Spectrum Disorder), is a rare, genetic condition affecting multiple organ systems in the the body. PBD is generally fatal in childhood. As a parent, it is difficult to express the sense of loneliness and feelings of isolation that enter your life when your child has a rare genetic disease that most people have never heard or and has no cure. However, #PauseForPBD, is a day that brings o…

As a parent of a child affected by PBD-ZSD it is hard to adequately describe how much it means to know that there is growing interest in finding treatment for rare diseases.

In addition to the scientific portion of the conference was a separate conference designed specifically for families. More than 40 families from the US, Canada, and the Netherlands came together in the largest GFPD Family Conference to date. Check out the welcome video below.

Jen Kerckhoff, a fellow GFPD Board of Directors member, wrote a wonderful article about her experience which you can read on the TulsaKids blog. Jen is one of just two members of the Board of Directors who is not a parent of a child who has been di…

On Friday, August 20th, when Ethan was just 28 days old, he was diagnosed with a Peroxisomal Biogenesis Disorder- Zellweger Spectrum Disorder (PBD-ZSD). These are really horrible nasty disorders.
The geneticist believes that Ethan’s is at the moderate/mild side of the PBD-ZSD spectrum – but there isn't anyway to really tell where Ethan's PBD-ZSD journey is taking us. Both of Ethan's gene mutations have been found, but even this can't tell us exactly what Ethan's life will be like. Only the Lord knows what the future holds for our little man.